ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.837G>A (p.Thr279=)

gnomAD frequency: 0.00003  dbSNP: rs368051840
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002518471 SCV000294320 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-02-23 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001183498 SCV001349247 likely benign Cardiomyopathy 2018-10-30 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.